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Record W2951203272 · doi:10.1101/299578

Brain scans from 21297 individuals reveal the genetic architecture of hippocampal subfield volumes

2018· preprint· en· W2951203272 on OpenAlexaff
Dennis van der Meer, Jaroslav Rokicki, Tobias Kaufmann, Aldo Córdova‐Palomera, Torgeir Moberget, Dag Alnæs, Francesco Bettella, Oleksandr Frei, Nhat Trung Doan, Ingrid Agartz, Alessandro Bertolino, Janita Bralten, Christine L. Brandt, Jan K. Buitelaar, Srdjan Djurovic, Marjolein van Donkelaar, Erlend S. Dørum, Thomas Espeseth, Stephen V. Faraone, Guillén Fernández, Simon E. Fisher D.Phil., Barbara Franke, Beathe Haatveit, Catharina A. Hartman, Pieter J. Hoekstra, Asta K. Håberg, Erik G. Jönsson, Knut K. Kolskår, Stéphanie Le Hellard, Martina J. Lund, Astri J. Lundervold, Arvid Lundervold, Ingrid Melle, Jennifer Monereo Sánchez, Jan Egil Nordvik, Lars Nyberg, Jaap Oosterlaan, Marco Papalino, Andreas Papassotiropoulos, Giulio Pergola, Dominique J.‐F. de Quervain, Geneviève Richard, Anne‐Marthe Sanders, Pierluigi Selvaggi, Elena Shumskaya, Vidar M. Steen, Siren Tønnesen, Kristine M. Ulrichsen Cand.Psychol., Marcel P. Zwiers, Ole A. Andreassen Lars, Lars T. Westlye

Bibliographic record

VenuebioRxiv (Cold Spring Harbor Laboratory) · 2018
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic Associations and Epidemiology
Canadian institutionsCentre for Addiction and Mental Health
FundersNational Institutes of HealthFP7 People: Marie-Curie ActionsNorges ForskningsrådEuropean CommissionU.S. Department of Defense
KeywordsHippocampal formationNeuroscienceGenetic architectureHippocampusSingle-nucleotide polymorphismGenome-wide association studyGenetic associationBiologyImaging geneticsHeritabilityNeuroimagingBrain sizeSchizophrenia (object-oriented programming)PsychologyGeneticsQuantitative trait locusGeneMedicineMagnetic resonance imagingGenotypePsychiatry

Abstract

fetched live from OpenAlex

ABSTRACT The hippocampus is a heterogeneous structure, comprising histologically distinguishable subfields. These subfields are differentially involved in memory consolidation, spatial navigation and pattern separation, complex functions often impaired in individuals with brain disorders characterized by reduced hippocampal volume, including Alzheimer’s disease (AD) and schizophrenia. Given the structural and functional heterogeneity of the hippocampal formation, we sought to characterize the subfields’ genetic architecture. T1-weighted brain scans (n=21297, 16 cohorts) were processed with the hippocampal subfields algorithm in FreeSurfer v6.0. We ran a genome-wide association analysis on each subfield, covarying for total hippocampal volume. We further calculated the single nucleotide polymorphism (SNP)-based heritability of twelve subfields, as well as their genetic correlation with each other, with other structural brain features, and with AD and schizophrenia. All outcome measures were corrected for age, sex, and intracranial volume. We found 15 unique genome-wide significant loci across six subfields, of which eight had not been previously linked to the hippocampus. Top SNPs were mapped to genes associated with neuronal differentiation, locomotor behaviour, schizophrenia and AD. The volumes of all the subfields were estimated to be heritable (h 2 from .14 to .27, all p< 1×10 -16 ) and clustered together based on their genetic correlations compared to other structural brain features. There was also evidence of genetic overlap of subicular subfield volumes with schizophrenia. We conclude that hippocampal subfields have partly distinct genetic determinants associated with specific biological processes and traits. Taking into account this specificity may increase our understanding of hippocampal neurobiology and associated pathologies.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.002
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.004
Threshold uncertainty score0.011

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0010.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.010
GPT teacher head0.228
Teacher spread0.217 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations5
Published2018
Admission routes1
Has abstractyes

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